MovDisordV3, PascalFrancis, Curation, bibRecord, 001844

A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

Identifieur interne : 001844 ( PascalFrancis/Curation ); précédent : 001843; suivant : 001845

A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

Auteurs : Soraya Bardien [Afrique du Sud] ; Fatima Abrahams [Afrique du Sud] ; Himla Soodyall [Afrique du Sud] ; Lize Van Der Merwe [Afrique du Sud] ; Jacquie Greenberg [Afrique du Sud] ; Tinus Brink [Afrique du Sud] ; Jonathan Carr [Afrique du Sud]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:08-0069700

Descripteurs français

Pascal (Inist)
- Pathologie du système nerveux, Chorée de Huntington, Sud, Africain, Maladie héréditaire, Phénotype.

English descriptors

KwdEn :
- African, Genetic disease, Huntington disease, Nervous system diseases, Phenotype, South.

Abstract

Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y-chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations.

A01	`01`	`1`		`@0 0885-3185`
A03		`1`		`@0 Mov. disord.`
A05				`@2 22`
A06				`@2 14`
A08	`01`	`1`	`ENG`	`@1 A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features`
A11	`01`	`1`		`@1 BARDIEN (Soraya)`
A11	`02`	`1`		`@1 ABRAHAMS (Fatima)`
A11	`03`	`1`		`@1 SOODYALL (Himla)`
A11	`04`	`1`		`@1 VAN DER MERWE (Lize)`
A11	`05`	`1`		`@1 GREENBERG (Jacquie)`
A11	`06`	`1`		`@1 BRINK (Tinus)`
A11	`07`	`1`		`@1 CARR (Jonathan)`
A14	`01`			`@1 Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch @2 Cape Town @3 ZAF @Z 1 aut. @Z 2 aut.`
A14	`02`			`@1 MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand @2 Johannesburg @3 ZAF @Z 3 aut.`
A14	`03`			`@1 Biostatistics Unit, Medical Research Council of South Africa @2 Cape Town @3 ZAF @Z 4 aut.`
A14	`04`			`@1 MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town @2 Cape Town @3 ZAF @Z 5 aut.`
A14	`05`			`@1 Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch @2 Cape Town @3 ZAF @Z 6 aut. @Z 7 aut.`
A20				`@1 2083-2089`
A21				`@1 2007`
A23	`01`			`@0 ENG`
A43	`01`			`@1 INIST @2 20953 @5 354000174393170110`
A44				`@0 0000 @1 © 2008 INIST-CNRS. All rights reserved.`
A45				`@0 22 ref.`
A47	`01`	`1`		`@0 08-0069700`
A60				`@1 P`
A61				`@0 A`
A64	`01`	`1`		`@0 Movement disorders`
A66	`01`			`@0 USA`
C01	`01`		`ENG`	@0 Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y-chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations.
C02	`01`	`X`		`@0 002B17`
C02	`02`	`X`		`@0 002B17G`
C02	`03`	`X`		`@0 002B17A03`
C03	`01`	`X`	`FRE`	`@0 Pathologie du système nerveux @5 01`
C03	`01`	`X`	`ENG`	`@0 Nervous system diseases @5 01`
C03	`01`	`X`	`SPA`	`@0 Sistema nervioso patología @5 01`
C03	`02`	`X`	`FRE`	`@0 Chorée de Huntington @5 02`
C03	`02`	`X`	`ENG`	`@0 Huntington disease @5 02`
C03	`02`	`X`	`SPA`	`@0 Corea Huntington @5 02`
C03	`03`	`X`	`FRE`	`@0 Sud @5 09`
C03	`03`	`X`	`ENG`	`@0 South @5 09`
C03	`03`	`X`	`SPA`	`@0 Sur @5 09`
C03	`04`	`X`	`FRE`	`@0 Africain @5 10`
C03	`04`	`X`	`ENG`	`@0 African @5 10`
C03	`04`	`X`	`SPA`	`@0 Africano @5 10`
C03	`05`	`X`	`FRE`	`@0 Maladie héréditaire @5 11`
C03	`05`	`X`	`ENG`	`@0 Genetic disease @5 11`
C03	`05`	`X`	`SPA`	`@0 Enfermedad hereditaria @5 11`
C03	`06`	`X`	`FRE`	`@0 Phénotype @5 12`
C03	`06`	`X`	`ENG`	`@0 Phenotype @5 12`
C03	`06`	`X`	`SPA`	`@0 Fenotipo @5 12`
C07	`01`	`X`	`FRE`	`@0 Pathologie de l'encéphale @5 37`
C07	`01`	`X`	`ENG`	`@0 Cerebral disorder @5 37`
C07	`01`	`X`	`SPA`	`@0 Encéfalo patología @5 37`
C07	`02`	`X`	`FRE`	`@0 Syndrome extrapyramidal @5 38`
C07	`02`	`X`	`ENG`	`@0 Extrapyramidal syndrome @5 38`
C07	`02`	`X`	`SPA`	`@0 Extrapiramidal síndrome @5 38`
C07	`03`	`X`	`FRE`	`@0 Maladie dégénérative @5 39`
C07	`03`	`X`	`ENG`	`@0 Degenerative disease @5 39`
C07	`03`	`X`	`SPA`	`@0 Enfermedad degenerativa @5 39`
C07	`04`	`X`	`FRE`	`@0 Pathologie du système nerveux central @5 40`
C07	`04`	`X`	`ENG`	`@0 Central nervous system disease @5 40`
C07	`04`	`X`	`SPA`	`@0 Sistema nervosio central patología @5 40`
N21				`@1 035`
N44	`01`			`@1 OTO`
N82				`@1 OTO`

Links toward previous steps (curation, corpus...)

to stream PascalFrancis, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001475

Links to Exploration step

Pascal:08-0069700

Le document en format XML

<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features</title>
<author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand</s1>
<s2>Johannesburg</s2>
<s3>ZAF</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Van Der Merwe, Lize" sort="Van Der Merwe, Lize" uniqKey="Van Der Merwe L" first="Lize" last="Van Der Merwe">Lize Van Der Merwe</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Biostatistics Unit, Medical Research Council of South Africa</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">INIST</idno>
<idno type="inist">08-0069700</idno>
<date when="2007">2007</date>
<idno type="stanalyst">PASCAL 08-0069700 INIST</idno>
<idno type="RBID">Pascal:08-0069700</idno>
<idno type="wicri:Area/PascalFrancis/Corpus">001475</idno>
<idno type="wicri:Area/PascalFrancis/Curation">001844</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features</title>
<author><name sortKey="Bardien, Soraya" sort="Bardien, Soraya" uniqKey="Bardien S" first="Soraya" last="Bardien">Soraya Bardien</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Abrahams, Fatima" sort="Abrahams, Fatima" uniqKey="Abrahams F" first="Fatima" last="Abrahams">Fatima Abrahams</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Soodyall, Himla" sort="Soodyall, Himla" uniqKey="Soodyall H" first="Himla" last="Soodyall">Himla Soodyall</name>
<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand</s1>
<s2>Johannesburg</s2>
<s3>ZAF</s3>
<sZ>3 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Van Der Merwe, Lize" sort="Van Der Merwe, Lize" uniqKey="Van Der Merwe L" first="Lize" last="Van Der Merwe">Lize Van Der Merwe</name>
<affiliation wicri:level="1"><inist:fA14 i1="03"><s1>Biostatistics Unit, Medical Research Council of South Africa</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>4 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Greenberg, Jacquie" sort="Greenberg, Jacquie" uniqKey="Greenberg J" first="Jacquie" last="Greenberg">Jacquie Greenberg</name>
<affiliation wicri:level="1"><inist:fA14 i1="04"><s1>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Brink, Tinus" sort="Brink, Tinus" uniqKey="Brink T" first="Tinus" last="Brink">Tinus Brink</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
<author><name sortKey="Carr, Jonathan" sort="Carr, Jonathan" uniqKey="Carr J" first="Jonathan" last="Carr">Jonathan Carr</name>
<affiliation wicri:level="1"><inist:fA14 i1="05"><s1>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</inist:fA14>
<country>Afrique du Sud</country>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>African</term>
<term>Genetic disease</term>
<term>Huntington disease</term>
<term>Nervous system diseases</term>
<term>Phenotype</term>
<term>South</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Pathologie du   système nerveux</term>
<term>Chorée de Huntington</term>
<term>Sud</term>
<term>Africain</term>
<term>Maladie héréditaire</term>
<term>Phénotype</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y-chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations.</div>
</front>
</TEI>
<inist><standard h6="B"><pA><fA01 i1="01" i2="1"><s0>0885-3185</s0>
</fA01>
<fA03 i2="1"><s0>Mov. disord.</s0>
</fA03>
<fA05><s2>22</s2>
</fA05>
<fA06><s2>14</s2>
</fA06>
<fA08 i1="01" i2="1" l="ENG"><s1>A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>BARDIEN (Soraya)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>ABRAHAMS (Fatima)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>SOODYALL (Himla)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>VAN DER MERWE (Lize)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>GREENBERG (Jacquie)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>BRINK (Tinus)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>CARR (Jonathan)</s1>
</fA11>
<fA14 i1="01"><s1>Division of Molecular Biology and Human Genetics, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>MRC/NHLS/Wits Human Genomic Diversity and Disease Research Unit, National Health Laboratory Service and School of Pathology, University of Witwatersrand</s1>
<s2>Johannesburg</s2>
<s3>ZAF</s3>
<sZ>3 aut.</sZ>
</fA14>
<fA14 i1="03"><s1>Biostatistics Unit, Medical Research Council of South Africa</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="04"><s1>MRC/UCT Human Genetics Research Unit, Institute of Infectious Disease and Molecular Medicine, University of Cape Town</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>5 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Neurology Division, Department of Medicine, Faculty of Health Sciences, University of Stellenbosch</s1>
<s2>Cape Town</s2>
<s3>ZAF</s3>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
</fA14>
<fA20><s1>2083-2089</s1>
</fA20>
<fA21><s1>2007</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000174393170110</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2008 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>22 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>08-0069700</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>Huntington disease-like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin-3 gene (JPH3). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that presented with progressive dementia and a movement disorder affecting numerous family members. Genotyping of the JPH3 CTG repeat revealed pathogenic expansions in three affected individuals. Whereas HDL2 is thought to be clinically indistinguishable from Huntington disease (HD), 2 of the patients in this study presented with clinical symptoms that differed substantially from HD; one had myoclonus and the other had Parkinsonism. Moreover, brain magnetic resonance imaging scans of these patients showed imaging features atypical for HD. Mitochondrial DNA and Y-chromosome DNA analysis on a family member showed that his maternal and paternal ancestries are typical of that found among the South African mixed ancestry or colored population. A difference in the distribution of CTG repeats between Caucasian and Black individuals was detected. We conclude that the phenotype of HDL2 is broad and can differ from that of typical HD. The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17</s0>
</fC02>
<fC02 i1="02" i2="X"><s0>002B17G</s0>
</fC02>
<fC02 i1="03" i2="X"><s0>002B17A03</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Pathologie du   système nerveux</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Chorée de Huntington</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Huntington disease</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Corea Huntington</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Sud</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>South</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Sur</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Africain</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>African</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Africano</s0>
<s5>10</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Maladie héréditaire</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Genetic disease</s0>
<s5>11</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Enfermedad hereditaria</s0>
<s5>11</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Phénotype</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Phenotype</s0>
<s5>12</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Fenotipo</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du   système nerveux central</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>035</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>

Pour manipuler ce document sous Unix (Dilib)

EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/PascalFrancis/Curation

HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001844 | SxmlIndent | more

HfdSelect -h $EXPLOR_AREA/Data/PascalFrancis/Curation/biblio.hfd -nk 001844 | SxmlIndent | more

Pour mettre un lien sur cette page dans le réseau Wicri

{{Explor lien
   |wiki=    Wicri/Santé
   |area=    MovDisordV3
   |flux=    PascalFrancis
   |étape=   Curation
   |type=    RBID
   |clé=     Pascal:08-0069700
   |texte=   A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features
}}

This area was generated with Dilib version V0.6.23.
Data generation: Sun Jul 3 12:29:32 2016. Site generation: Wed Feb 14 10:52:30 2024

	Movement Disorders (revue)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.

Movement Disorders (revue)

A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

A South African Mixed Ancestry Family with Huntington Disease-Like 2: Clinical and Genetic Features

Source :

Descripteurs français

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri